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A case of incomplete DiGeorge syndrome associated with partial monosomy 22q11.1 due to maternal 14;22 translocation
Ist Teil von
Jinrui idengaku zasshi. Japanese journal of human genetics, 1989-09, Vol.34 (3), p.235-241
Ort / Verlag
Japan
Erscheinungsjahr
1989
Quelle
MEDLINE
Beschreibungen/Notizen
We report a boy with some clinical symptoms compatible with a diagnosis of incomplete DiGeorge syndrome. He had a dismorphic face, micrognathia, cleft palate, and heart anomalies similar to DiGeorge syndrome, but lacked aplasia of the thymus or hypoparathyroidism typical of the syndrome. High-resolution banding analysis revealed that his karyotype was 45,XY,-14,-22, +der(14)(14pter---14q32.32::22q11.21---22qter), the consequence of a maternal reciprocal translocation between chromosomes 14 and 22. Precise localization of the gene responsible for the present DiGeorge syndrome was assigned to subband 22q11.1.